名称：C12orf40

别名：HEL-206; HEL-S-94

描述

Encoding over 1,100 genes within 132 million bases, chromosome 12 makes up about 4.5% of the human genome. A number of skeletal deformities are linked to chromosome 12 including hypochondrogenesis, achondrogenesis and Kniest dysplasia. Noonan syndrome, which includes heart and facial developmental defects among the primary symptoms, is caused by a mutant form of PTPN11 gene product, SH-PTP2. Chromosome 12 is also home to a homeobox gene cluster which encodes crucial transcription factors for morphogenesis, and the natural killer complex gene cluster encoding C-type lectin proteins which mediate the NK cell response to MHC I interaction. Trisomy 12p leads to facial development defects, seizure disorders and a host of other symptoms varying in severity depending on the extent of mosaicism and is most severe in cases of complete trisomy. The C12orf40 gene product has been provisionally designated C12orf40 pending further characterization.

Specification

Swissprot：Q86WS4

Gene Accession：BC048120

Host/Isotype：Rabbit IgG

Antibody Type：Primary antibody

Storage：Store at 4°C short term. Aliquot and store at -20°C long term. Avoid freeze/thaw cycles.

Species Reactivity：Human

免疫原：Fusion protein of human C12orf40

Formulation：Purified antibody in PBS with 0.05% sodium azide and 50% glycerol.

Application

Application：IHC

IHC：1/40-1/200

ELISA：1/5000-1/10000

宿主：Rabbit